檢索結果 - Isabelle Leber

  • Showing 1 - 5 results of 5
Refine Results
  1. 1
    Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

    Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias 由 Claudia Cagnoli, Giovanni Stévanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L. Margolis, Susan E. Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan, Patrizia Pappi, Cécile Zaros, Isabelle Leber, Pascale Ribaı̈, Luisa Pugliese, Corrado Assalto, Alexis Brice, Nicola Migone, Alexandra Dürr, Alfredo Brusco

    出版 2010
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    The European Reference Network for Rare Neurological Diseases

    The European Reference Network for Rare Neurological Diseases 由 Carola Reinhard, Anne‐Catherine Bachoud‐Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh‐Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Mária Judit Molnár, Jorik Nonnekes, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Lori Renna Linton, Lüdger Schöls, R. Schuele, Marina A.J. Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I. Wolf, Holm Graeßner

    出版 2021
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  3. 3
    A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

    A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors 由 Imogen J. Swift, Rosa Rademakers, NiCole A. Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel Tadao Takada, Raquel Sánchez‐Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, María Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosário Almeida, Fermín Moreno, Myriam Barandiarán, Alazne Gabilondo, Johannes Stubert, Estrella Gómez‐Tortosa, Pablo Agüero, María José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel‐Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Liu C, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia C. Bruni, Mirja Quante, Wieland Kieß, Andreas Hiemisch, Anne Jurkutat, Matthew S. Block, Aaron Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily K. Abel, Alba Gómez‐Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C. Jiskoot, Lieke Meeter, João Durães, Marisa Lima, Miguel Tábuas‐Pereira, João Lemos, Bradley F. Boeve, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff‐Radford, Isabelle Leber, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán‐Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimón, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L. van der Ende, John C. van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb‐Esteve, Jonathan D. Rohrer

    出版 2024
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  4. 4
    Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

    Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS 由 Erdogan Taskesen, Aniket Mishra, Sophie van der Sluis, Raffaele Ferrari, D. G. Hernandez, M. A. Nalls, Jonathan D. Rohrer, Adaikalavan Ramasamy, John B. Kwok, Carol Dobson‐Stone, Peter R. Schofield, Glenda M. Halliday, J. R. Hodges, Olivier Piguet, Lauren Bartley, Emma E. Thompson, Eric Haan, Israel Alejandro Quijano-Hernández, Agustı́n Ruiz, Merçé Boada, Barbara Borroni, Alessandro Padovani, Carlos Cruchaga, Nigel J. Cairns, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Gianluigi Forloni, Diego Albani, Daniela Galimberti, Chiara Fenoglio, María Serpente, Elio Scarpini, Jordi Clarimón, Alberto Lleó, Rafael Blesa, María Landqvist Waldö, Kristina Nilsson, Christer Nilsson, I. R. A. Mackenzie, Ging‐Yuek Robin Hsiung, David Mann, Jordan Grafman, Christopher M. Morris, Johannes Attems, Timothy D. Griffiths, Ian G. McKeith, Alan Thomas, Pietro Pietrini, Edward D. Huey, Eric M. Wassermann, Atik Baborie, Evelyn Jaros, Michael Tierney, Pau Pástor, Cristina Razquín, Sara Ortega‐Cubero, Elena Alonso, Robert Perneczky, Janine Diehl‐Schmid, Panagiotis Alexopoulos, Andrea Kurz, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Ekaterina Rogaeva, Peter St George‐Hyslop, Giacomina Rossi, Fabrizio Tagliavini, Giorgio Giaccone, James B. Rowe, Johannes C. M. Schlachetzki, James Uphill, J. Collinge, Simon Mead, Adrian Danek, Vivianna M. Van Deerlin, Murray Grossman, John Q. Trojanowski, Julie van der Zee, Christine Van Broeckhoven, Stefano F. Cappa, Isabelle Leber, Didier Hannequin, Véronique Golfier, Martine Vercelletto, Alexis Brice, Benedetta Nacmias, Sandro Sorbi, Silvia Bagnoli, Irene Piaceri, Jens Høiriis Nielsen, L. E. Hjermind, Markus J. Riemenschneider, Manuel Mayhaus, Bernd Ibach, Gilles Gasparoni, Sabrina Pichler, Wei Gu, Martin N. Rossor

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia 由 Vivek Swarup, Flora I. Hinz, Jessica E. Rexach, K Noguchi, Hiroyoshi Toyoshiba, Akira Oda, Keisuke Hirai, Arjun Sarkar, Nicholas T. Seyfried, Chialin Cheng, Stephen J. Haggarty, Raffaele Ferrari, Jonathan D. Rohrer, Adaikalavan Ramasamy, John Hardy, Dena Hernandez, Mike A. Nalls, Andrew B. Singleton, John B. Kwok, Carol Dobson‐Stone, William S. Brooks, Peter R. Schofield, Glenda M. Halliday, John R. Hodges, Olivier Piguet, Lauren Bartley, Elizabeth Thompson, Eric Haan, Isabel Hernández, Agustı́n Ruiz, Merçé Boada, Barbara Borroni, Alessandro Padovani, Nigel J. Cairns, Carlos Cruchaga, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi, Gianluigi Forloni, Diego Albani, Daniela Galimberti, Chiara Fenoglio, María Serpente, Elio Scarpini, Jordi Clarimón, Alberto Lleó, Rafael Blesa, María Landqvist Waldö, Karin Nilsson, Christer Nilsson, Ian R. Mackenzie, Ging‐Yuek Robin Hsiung, David M. A. Mann, Jordan Grafman, Christopher M. Morris, Johannes Attems, Timothy D. Griffiths, Ian G. McKeith, Alan Thomas, Evelyn Jaros, Pietro Pietrini, Edward D. Huey, Eric M. Wassermann, Michael Tierney, Atik Baborie, Pau Pástor, Sara Ortega‐Cubero, Cristina Razquín, Elena Alonso, Robert Perneczky, Janine Diehl‐Schmid, Panagiotis Alexopoulos, Alexander Kurz, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Ekaterina Rogaeva, Peter St George–Hyslop, Giacomina Rossi, Fabrizio Tagliavini, Giorgio Giaccone, James B. Rowe, Johannes C. M. Schlachetzki, James Uphill, John Collinge, Simon Mead, Adrian Danek, Vivianna M. Van Deerlin, Murray Grossman, John Q. Trojanowski, Stuart Pickering‐Brown, Parastoo Momeni, Julie van der Zee, Marc Cruts, Christine Van Broeckhoven, Stefano F. Cappa, Isabelle Leber, Alexis Brice, Didier Hannequin, Véronique Golfier

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: